Haemophagocytic lymphohistiocytosis secondary to Epstein-Barr and cytomegalovirus coinfection.

Haemophagocytic lymphohistiocytosis (HLH) is a rare and life-threatening disorder caused by uncontrolled activation of the immune system, leading to phagocytosis of blood cells and cytokine storm. HLH can manifest in childhood due to a genetic mutation, but in adults HLH arises secondary to viral infections, autoimmune diseases or neoplastic processes. The most common viral infections associated with HLH are Epstein-Barr virus (EBV) and cytomegalovirus (CMV). EBV and CMV coinfection associated with HLH, however, is exceedingly rare. We present a case of HLH secondary to EBV and CMV coinfection in a young adult who presented with recurrent intermittent high-grade fevers and epistaxis. This case illustrates the importance of considering HLH in patients with idiopathic fevers and to consider all the potential aetiologies for HLH to ensure proper treatment.

HIV-associated nemaline myopathy manifesting as bent spine syndrome.

HIV-associated myopathies include HIV-associated polymyositis, inclusion body myositis, diffuse infiltrative lymphocytosis syndrome and sporadic late-onset nemaline myopathy (HIV-NM). HIV-NM typically manifests as a painless, progressive proximal and axial muscle weakness with characteristic histological findings of intracytoplasmic rods, or nemaline bodies, seen in atrophic muscle fibres. HIV-NM presents prior to or shortly after initiation of antiretroviral therapy (ART) and is treated with intravenous immunoglobulin, glucocorticoids or immunosuppression. We present a case of HIV-NM in a patient with well-controlled HIV on decades-long ART with progressive bent spine syndrome, or camptocormia. This case highlights the importance of considering HIV-associated myopathies such as HIV-NM in patients with HIV who present with musculoskeletal complaints.

Metagenomic next-generation sequencing identifying a rare case of Mycobacterium xenopi discitis.

Mycobacterium xenopi is a non-tuberculous mycobacterium (NTM) that sporadically causes infections in humans and can cause rare bone and joint infections in immunocompromised hosts with history of spinal surgery. This slow-growing mycobacterium takes 8-12 weeks to grow on culture. Metagenomic next-generation sequencing (MNGS) is a highly sensitive and specific plasma-based microbial cell-free DNA test that can detect M. xenopi weeks prior to culture growth. We present a case of M. xenopi lumbosacral discitis with presacral abscess in an immunocompromised woman without history of spinal surgery which was detected by MNGS 8 weeks prior to culture growth. The patient's discitis resolved with an M. xenopi-directed regimen of ethambutol, rifampin and azithromycin. This case illustrates the utility of next-generation sequencing tests in rapid diagnosis of rare and opportunistic infections, as compared with traditional diagnostic tests, with supporting contextual clinical and diagnostic findings.

Primary cutaneous marginal zone lymphoma presenting with secondary chilblains of the toes.

Cutaneous lymphoproliferative disorders include cutaneous manifestations of systemic B-cell or T-cell lymphoma and primary cutaneous lymphomas. Primary cutaneous B-cell lymphomas are subcategorised into four groups: primary cutaneous marginal zone lymphoma (PCMZL), primary cutaneous follicle centre lymphoma, primary cutaneous diffuse large B-cell lymphoma, leg-type and EBV-positive mucocutaneous tumour. Each of these cutaneous lymphoproliferative disorders has unique clinical and pathological features necessitating biopsy and staging to establish proper treatment. We present a case of PCMZL manifesting as secondary chilblains of the toes that was diagnosed with punch skin biopsy. The patient's chilblains resolved with rituximab. This case underscores the importance of considering PCMZL and other cutaneous lymphoproliferative disorders in patients with dermatological manifestations and wounds refractory to first-line treatment.

Mucoid degeneration of the anterior cruciate ligament corrected with autograft reconstruction.

The anterior cruciate ligament (ACL) is the most frequently injured knee ligament, typically in non-contact athletic injuries in young adults. Mucoid degeneration of the ACL (ACL-MD) is an uncommon ACL pathology in which glycosaminoglycans deposition within the collagenous bundles leads to hypertrophy, loss of full knee flexion and knee pain without instability. ACL-MD usually presents in individuals over 40 years with sudden-onset knee pain after minimal trauma or as an incidental MRI finding. ACL-MD is rarely described in young adults. We present a case of ACL-MD in a previously healthy adult in his early 20s who presented with 3-month recalcitrant dull left knee pain and limited range of motion after 'stepping funny' with slight twisting. This case highlights the need to critically reflect on the anatomical structures when presented with musculoskeletal pathologies and to consider the unique presentation of musculoskeletal disease in atypical age groups.

Third-degree atrioventricular block associated with severe acute hyponatraemia.

Severe acute hyponatraemia, defined as a sodium concentration of less than 120 mEq/L, typically manifests with neurological manifestations, resulting in obtundation, coma, seizures, respiratory arrest and death. It very rarely is arrhythmogenic, with a literature review revealing seven cases of hyponatraemia-associated atrioventricular (AV) block of various degrees, of which only three were described as having third-degree AV block. The higher-degree AV blocks typically occurred at sodium levels closer to 115 mEq/L. We present a case of severe acute hypo-osmolar hyponatraemia-induced third-degree AV block in a patient without any other risk factors or aetiologies who initially presented with subdural haematoma and developed refractory bradycardia during his admission. The patient's third-degree AV block completely resolved after correction of his sodium. This case highlights the importance of working up the cause of new-onset third-degree AV block and the consideration of rarer electrolyte derangements such as hyponatraemia as a potential cause.